A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

Abstract Background Epilepsy limited to females with mental retardation (EFMR) is a rare type of epilepsy with an X‐linked mode of inheritance, which affect heterozygous females while the males are not affected. Mutations within the protocadherin 19 (PCDH19) gene have been identified as the direct c...

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Bibliographic Details
Main Authors: Xuechao Zhao, Yanhong Wang, Shiyue Mei, Xiangdong Kong
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
epilepsy
missense mutation
PCDH19 gene
prenatal diagnosis
Online Access:https://doi.org/10.1002/mgg3.1234

Internet

https://doi.org/10.1002/mgg3.1234

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